MyVariant.info:
GRCh37
chr14:g.88452896G>T
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001328 (AMR)
Genomes Max Group AF
0.00005298 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87986552G>T , CM000676.2:g.87986552G>T | GRCh38 |
| NC_000014.8:g.88452896G>T , CM000676.1:g.88452896G>T | GRCh37 |
| NC_000014.7:g.87522649G>T | NCBI36 |
| NG_011853.2:g.12012C>A | |
| NG_011853.3:g.12012C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261304.7:c.379C>A MANE Select | ENSP00000261304.2:p.Arg127= | |
| ENST00000261304.6:c.379C>A | ENSP00000261304.2:p.Arg127= | |
| ENST00000393568.8:c.310C>A | ENSP00000377198.4:p.Arg104= | |
| ENST00000393569.6:c.301C>A | ENSP00000377199.2:p.Arg101= | |
| ENST00000474294.6:n.369C>A | ||
| ENST00000544807.6:c.211C>A | ENSP00000437513.2:p.Arg71= | |
| ENST00000554372.5:c.*128C>A | ENSP00000451884.1:n.*128C>A | |
| ENST00000554916.5:n.258C>A | ||
| ENST00000556261.5:n.80C>A | ||
| ENST00000556879.5:c.439C>A | ENSP00000452208.1:n.439C>A | |
| ENST00000557316.5:c.379C>A | ENSP00000452314.1:p.Arg127= | |
| ENST00000622264.4:c.369C>A | ||
| NM_000153.3:c.379C>A | NP_000144.2:p.Arg127= | |
| NM_001201401.1:c.310C>A | NP_001188330.1:p.Arg104= | |
| NM_001201402.1:c.301C>A | NP_001188331.1:p.Arg101= | |
| XM_011536618.1:c.211C>A | XP_011534920.1:p.Arg71= | |
| XM_011536618.2:c.211C>A | XP_011534920.1:p.Arg71= | |
| NM_000153.4:c.379C>A MANE Select | NP_000144.2:p.Arg127= | |
| NM_001201401.2:c.310C>A | NP_001188330.1:p.Arg104= | |
| NM_001201402.2:c.301C>A | NP_001188331.1:p.Arg101= |